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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M. Kley RA, et al. Brain. 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. Brain. 2007. PMID: 18055494 Review.
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO. Kley RA, et al. Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200. Brain. 2012. PMID: 22961544 Free PMC article.
Filamin C-related myopathies: pathology and mechanisms.
Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF. Fürst DO, et al. Among authors: kley ra. Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30. Acta Neuropathol. 2013. PMID: 23109048 Free PMC article.
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA, Leber Y, Schrank B, Zhuge H, Orfanos Z, Kostan J, Onipe A, Sellung D, Güttsches AK, Eggers B, Jacobsen F, Kress W, Marcus K, Djinovic-Carugo K, van der Ven PFM, Fürst DO, Vorgerd M. Kley RA, et al. Neurol Genet. 2021 May 18;7(3):e590. doi: 10.1212/NXG.0000000000000590. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34235269 Free PMC article.
56 results